A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8908n54



Internal ID20142332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2058728..2060010hg38UCSC Ensembl
chr4:2060455..2061737hg19UCSC Ensembl
chr4:2030253..2031535hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381283
hg191283
hg181283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593371, nsv593367, nsv593373
Samples
Known GenesNAT8L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8908n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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